chr12:6483767:G>T Detail (hg19) (SCNN1A)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr12:6,483,767-6,483,767
hg38	chr12:6,374,601-6,374,601 View the variant detail on this assembly version.

HGVS

SCNN1A

Type	Transcript	Protein
RefSeq	NM_001038.5:c.183C>A	NP_001029.1:p.Phe61Leu
	NM_001159576.1:c.360C>A	NP_001153048.1:p.Phe120Leu
	NM_001159575.1:c.252C>A	NP_001153047.1:p.Phe84Leu
Ensemble	ENST00000228916.7:c.183C>A	ENST00000228916.7:p.Phe61Leu
	ENST00000396966.6:c.183C>A	ENST00000396966.6:p.Phe61Leu
	ENST00000360168.7:c.360C>A	ENST00000360168.7:p.Phe120Leu
	ENST00000543768.1:c.252C>A	ENST00000543768.1:p.Phe84Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

SCNN1A

Type	Database	ID	Link
Gene	MIM	600228	OMIM
	HGNC	10599	HGNC
	Ensembl	ENSG00000111319	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Bronchiectasis with or without elevated sweat chloride 2	Mutations in the amiloride-sensitive epithelial sodium channel in patients with ...	UNIPROT	19462466	Detail

Annotation

Annotations

Descrption	Source	Links
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs61758859 dbSNP
Genome: hg19
Position: chr12:6,483,767-6,483,767
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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